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A case of Shwachman-Diamond syndrome distinguished from celiac disease

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Author(s): Shin-ichiro Hagiwara | Arata Watanabe

Journal: Pediatric Reports
ISSN 2036-749X

Volume: 4;
Issue: 3;
Start page: e30;
Date: 2012;
Original page

Keywords: Shwachman-Diamond syndrome | Celiac disease | Villous atrophy

ABSTRACT
Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.
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